Suppr超能文献

An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q.

作者信息

Millán J M, Martínez F, Vilela C, Beneyto M, Prieto F, Nájera C

机构信息

Unidad de Genética y Diag, Prenatal, Hospital La Fe, Valencia, Spain.

出版信息

Hum Genet. 1995 Aug;96(2):216-8. doi: 10.1007/BF00207382.

Abstract

Retinitis pigmentosa is the most prevalent inherited disorder of the retina. It can be autosomal dominant (adRP), autosomal recessive (arRP) or X-linked (XLRP). A form of adRP mapping to chromosome 7q was reported in a large Spanish pedigree. We have typed DNA from the members of another Spanish family for polymorphic markers from the known candidate genes. Positive lod scores were obtained only for the markers located on 7q31-35, giving a maximum lod score of 2.98 (3.01 by multipoint analysis) at theta = 0.00 for D7S480. A brief clinical evaluation is given.

摘要

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验